Fractures in Hereditary Neuromuscular Disorders: Frequency, Risk Factors, and Implications

Overview

Journal Eur J Neurol

Publisher Wiley

Specialty Neurology

Date 2025 Mar 5

PMID 40040345

Authors

Matthias Opsomer

Louise Iterbeke

Herman Borghs

Tine De Cuyper

Marian Dejaeger

Patrick Dupont

Kristl G Claeys

Affiliations

Soon will be listed here.

Abstract

Background: Hereditary neuromuscular disorders (NMD) are associated with compromised bone health and elevated fracture risk, though data are largely lacking.

Objective: This study aimed to assess the prevalence and risk factors of fractures in hereditary NMD.

Methods: We conducted a retrospective study in a cohort of adult patients with diverse hereditary NMD, using data from electronic medical records.

Results: Among 469 patients, 505 fractures were recorded, with 5.5% of patients experiencing a fracture within the past year. In the 10 years preceding study inclusion, 31.1% of all patients sustained at least one fracture. The fracture rate was 47.3/1000 patient-years. Fracture incidence was highest in the second decade of life and the first five years after symptom onset. Fracture recurrence occurred in 25.6% over the next two years. Fractures were most prevalent in patients with Duchenne muscular dystrophy, myotonic dystrophy type 1/2, and spinal muscular atrophy. Patients with Vignos scale 5-6 had the highest fracture risk. Major osteoporotic fractures accounted for 28.6%, and 71.3% were caused by low-energy trauma. Long-term complications of a fracture were present in 44.2%, with 9.0% losing ambulation. Osteoporosis was confirmed in 47.5% of DXA scans. In patients with a normal DXA scan, 66.7% experienced a subsequent fracture. Hip T-scores declined with increasing Vignos scale (r = -0.27, p = 0.001). Fracture risk factors included glucocorticoid use, alcohol abuse, recent falls, and previous emergency visits for falls (all p < 0.05).

Conclusion: This cohort exhibited a high prevalence of fractures and osteoporosis, emphasizing the need for regular bone health assessment and fracture prevention in hereditary NMD patients.

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